Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Ptosis (HP:0000508)help
Term ID: 508
Name: Ptosis
Synonym: Blepharoptosis; Drooping upper eyelid; Eye drop; Eyelid ptosis
Definition: The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Comments:
Reference: HP:0000508
Genes and Diseases:
 
       Child Nodes:
........expandBilateral ptosis (HP:0001488) help
................... HP:0007911 Congenital bilateral ptosis
........expandHorner syndrome (HP:0002277) help
................... HP:0006837 Congenital Horner syndrome
........expandUnilateral ptosis (HP:0007687) help
........expandProgressive ptosis (HP:0007838) help
........expandCongenital ptosis (HP:0007970) help
................... HP:0007911 Congenital bilateral ptosis

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000508HP:0000508Ptosis0A2ML1 CL E G H144568648ORPHA12173523336610627
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1661110859600509
HP:0000508HP:0000508Ptosis0ABHD5 CL E G H5109998907ORPHA13917221396604780
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217318129102610
HP:0000508HP:0000508Ptosis0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165306132102630
HP:0000508HP:0000508Ptosis0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165306132102630
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148335144102560
HP:0000508HP:0000508Ptosis0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16823715766611386
HP:0000508HP:0000508Ptosis0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939101109ORPHA140339315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939313772ORPHA140339315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000508HP:0000508Ptosis0AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H37579098914ORPHA1181303329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM1181303329103320
HP:0000508HP:0000508Ptosis0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0000508HP:0000508Ptosis0AK9 CL E G H22126498913ORPHA134433814615358
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112379391164730
HP:0000508HP:0000508Ptosis0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18349414103850
HP:0000508HP:0000508Ptosis0ALX1 CL E G H8092306542ORPHA15311494601527
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257391474ORPHA1842449606014
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1842449606014
HP:0000508HP:0000508Ptosis0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM1217529101616062
HP:0000508HP:0000508Ptosis0ANO10 CL E G H55129284289ORPHA11920925519613726
HP:0000508HP:0000508Ptosis0APOPT1 CL E G H84334436271ORPHA112120492616003
HP:0000508HP:0000508Ptosis0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112120492616003
HP:0000508HP:0000508Ptosis0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000508HP:0000508Ptosis0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118881518040614556
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1363694604695
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000508HP:0000508Ptosis0ARVCF CL E G H421567ORPHA12541728602269
HP:0000508HP:0000508Ptosis0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM1610623805612991
HP:0000508HP:0000508Ptosis0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11701074886300032
HP:0000508HP:0000508Ptosis0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13437106607047
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16239814262607270
HP:0000508HP:0000508Ptosis0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11522420207610308
HP:0000508HP:0000508Ptosis0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM145028636611951
HP:0000508HP:0000508Ptosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15548220893300485
HP:0000508HP:0000508Ptosis0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15548220893300485
HP:0000508HP:0000508Ptosis0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1372461020603647
HP:0000508HP:0000508Ptosis0BDNF CL E G H627893ORPHA135561033113505
HP:0000508HP:0000508Ptosis0BIN1 CL E G H274169189ORPHA1174261052601248
HP:0000508HP:0000508Ptosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1174261052601248
HP:0000508HP:0000508Ptosis0BPTF CL E G H2186529962ORPHA1141063581601819
HP:0000508HP:0000508Ptosis0BRAF CL E G H673500ORPHA1685991097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673648ORPHA1685991097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1685991097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1685991097164757
HP:0000508HP:0000508Ptosis0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11814214255602410
HP:0000508HP:0000508Ptosis0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0000508HP:0000508Ptosis0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM17431243601269
HP:0000508HP:0000508Ptosis0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436901541165360
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H575452318ORPHA19686529253612013
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19686529253612013
HP:0000508HP:0000508Ptosis0CCDC47 CL E G H57003618268618268618268OMIM1523248560
HP:0000508HP:0000508Ptosis0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221711733603309
HP:0000508HP:0000508Ptosis0CEP290 CL E G H801842318ORPHA1310151729021610142
HP:0000508HP:0000508Ptosis0CHAT CL E G H110398914ORPHA1775001912118490
HP:0000508HP:0000508Ptosis0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000508HP:0000508Ptosis0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231701919603277
HP:0000508HP:0000508Ptosis0CHD7 CL E G H55636138ORPHA1884167220626608892
HP:0000508HP:0000508Ptosis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884167220626608892
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112771961100710
HP:0000508HP:0000508Ptosis0CHRND CL E G H114498913ORPHA1263221965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM1263221965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1263221965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1263221965100720
HP:0000508HP:0000508Ptosis0CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11385911966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11462990ORPHA1352021967100730
HP:0000508HP:0000508Ptosis0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1352021967100730
HP:0000508HP:0000508Ptosis0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM1211478011602346
HP:0000508HP:0000508Ptosis0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM172725716615623
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H130598914ORPHA131752190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM131752190120350
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H84570616219Fibrosis of extraocular muscles, congenital, 5616219C4015552OMIM144218603610004
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H10584293843ORPHA14542220607620
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14542220607620
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H78989293843ORPHA1136217213612502
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1136217213612502
HP:0000508HP:0000508Ptosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000508HP:0000508Ptosis0COMT CL E G H1312567ORPHA1155772228116790
HP:0000508HP:0000508Ptosis0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132452260602125
HP:0000508HP:0000508Ptosis0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132452260602125
HP:0000508HP:0000508Ptosis0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111928216614478
HP:0000508HP:0000508Ptosis0COX15 CL E G H1355255241ORPHA152152263603646
HP:0000508HP:0000508Ptosis0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM152152263603646
HP:0000508HP:0000508Ptosis0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1113726970614698
HP:0000508HP:0000508Ptosis0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13422280124089
HP:0000508HP:0000508Ptosis0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11162294123870
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131512309605032
HP:0000508HP:0000508Ptosis0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000508HP:0000508Ptosis0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201682457115440
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12745726193611654
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111702494602618
HP:0000508HP:0000508Ptosis0DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM1262682689609312
HP:0000508HP:0000508Ptosis0DCHS1 CL E G H8642601390601390601390OMIM12429813681603057
HP:0000508HP:0000508Ptosis0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1592092719107930
HP:0000508HP:0000508Ptosis0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641342858601465
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H1717818ORPHA12185052860602858
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12185052860602858
HP:0000508HP:0000508Ptosis0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151622896608770
HP:0000508HP:0000508Ptosis0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM182062939601810
HP:0000508HP:0000508Ptosis0DNM2 CL E G H1785169189ORPHA1526702974602378
HP:0000508HP:0000508Ptosis0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1526702974602378
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM17564126594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17564126594610285
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM1421972995191350
HP:0000508HP:0000508Ptosis0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13020429419612799
HP:0000508HP:0000508Ptosis0EBP CL E G H1068235173ORPHA1912603133300205
HP:0000508HP:0000508Ptosis0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM1331463147605896
HP:0000508HP:0000508Ptosis0ECHS1 CL E G H1892255241ORPHA1332363151602292
HP:0000508HP:0000508Ptosis0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19783188605984
HP:0000508HP:0000508Ptosis0EFEMP2 CL E G H3000890349ORPHA1172453219604633
HP:0000508HP:0000508Ptosis0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000508HP:0000508Ptosis0ERF CL E G H2077207EchinococcosisORPHA1191023444611888
HP:0000508HP:0000508Ptosis0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1326729160612322
HP:0000508HP:0000508Ptosis0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13747423109612411
HP:0000508HP:0000508Ptosis0FBLN5 CL E G H1051690349ORPHA1231933602604580
HP:0000508HP:0000508Ptosis0FBN1 CL E G H22002462ORPHA1272149063603134797
HP:0000508HP:0000508Ptosis0FGD1 CL E G H2245915ORPHA1512993663300546
HP:0000508HP:0000508Ptosis0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512993663300546
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12654953688136350
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263794ORPHA11594463689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22631555ORPHA11594463689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA11594463689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263207EchinococcosisORPHA11594463689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11594463689176943
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H226193262ORPHA1775083690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H2261794ORPHA1775083690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H226153271ORPHA1775083690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1775083690134934
HP:0000508HP:0000508Ptosis0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM172143693605830
HP:0000508HP:0000508Ptosis0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171693749193067
HP:0000508HP:0000508Ptosis0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127118133754300017
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM1971093801602402
HP:0000508HP:0000508Ptosis0FOXE3 CL E G H230188632ORPHA1311463808601094
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241721092605597
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H55572255241ORPHA1820926927613622
HP:0000508HP:0000508Ptosis0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18485514195138079
HP:0000508HP:0000508Ptosis0GFER CL E G H2671330054ORPHA161074236600924
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000508HP:0000508Ptosis0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12446464319165240
HP:0000508HP:0000508Ptosis0GP1BB CL E G H2812567ORPHA1534254440138720
HP:0000508HP:0000508Ptosis0GPRASP2 CL E G H114928301018DEAFNESS, X-LINKED 7301018OMIM1217625169300969
HP:0000508HP:0000508Ptosis0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1201774593604473
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15626013315300269
HP:0000508HP:0000508Ptosis0HIRA CL E G H7290567ORPHA154344916600237
HP:0000508HP:0000508Ptosis0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111895004300193
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM1151045044600712
HP:0000508HP:0000508Ptosis0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16315111142968
HP:0000508HP:0000508Ptosis0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA1181625154601688
HP:0000508HP:0000508Ptosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181625154601688
HP:0000508HP:0000508Ptosis0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1344065173190020
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H3339800ORPHA16712925273142461
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0000508HP:0000508Ptosis0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16406395389300823
HP:0000508HP:0000508Ptosis0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM1410718550609382
HP:0000508HP:0000508Ptosis0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131695464147440
HP:0000508HP:0000508Ptosis0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000508HP:0000508Ptosis0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831286081176730
HP:0000508HP:0000508Ptosis0JMJD1C CL E G H221037567ORPHA12980712313604503
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM172103924565612452
HP:0000508HP:0000508Ptosis0KAT6A CL E G H7994457193ORPHA12936713013601408
HP:0000508HP:0000508Ptosis0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12936713013601408
HP:0000508HP:0000508Ptosis0KAT6B CL E G H23522648ORPHA17635917582605880
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872986257600937
HP:0000508HP:0000508Ptosis0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1338118039605393
HP:0000508HP:0000508Ptosis0KDM6A CL E G H74032322ORPHA18146512637300128
HP:0000508HP:0000508Ptosis0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18146512637300128
HP:0000508HP:0000508Ptosis0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM1229068616650
HP:0000508HP:0000508Ptosis0KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0000508HP:0000508Ptosis0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000508HP:0000508Ptosis0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1693586323602821
HP:0000508HP:0000508Ptosis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11276087132159555
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80852322ORPHA171217317133602113
HP:0000508HP:0000508Ptosis0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171217317133602113
HP:0000508HP:0000508Ptosis0KRAS CL E G H3845648ORPHA1453296407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1453296407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000508HP:0000508Ptosis0KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000508HP:0000508Ptosis0KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141886556604407
HP:0000508HP:0000508Ptosis0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141886556604407
HP:0000508HP:0000508Ptosis0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM197318712608303
HP:0000508HP:0000508Ptosis0LIG4 CL E G H3981235ORPHA1403816601601837
HP:0000508HP:0000508Ptosis0LIPT1 CL E G H51601255241ORPHA196929569610284
HP:0000508HP:0000508Ptosis0LMNA CL E G H40002229ORPHA157413316636150330
HP:0000508HP:0000508Ptosis0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953686654602575
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93611458ORPHA1192089479605490
HP:0000508HP:0000508Ptosis0LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40383152Kuster syndromeORPHA1345266696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1345266696604270
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H8216648ORPHA1869006742600574
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM1869006742600574
HP:0000508HP:0000508Ptosis0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1222416776177075
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232896840176872
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H5605638ORPHA1354466842601263
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000508HP:0000508Ptosis0MARK3 CL E G H4140618283618283618283OMIM12556897602678
HP:0000508HP:0000508Ptosis0MASP1 CL E G H5648293843ORPHA1222066901600521
HP:0000508HP:0000508Ptosis0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000508HP:0000508Ptosis0MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM13336948602696
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42041762ORPHA1105015846990300005
HP:0000508HP:0000508Ptosis0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13488711957300188
HP:0000508HP:0000508Ptosis0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1539128845610197
HP:0000508HP:0000508Ptosis0MGME1 CL E G H92667352447ORPHA176816205615076
HP:0000508HP:0000508Ptosis0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM176816205615076
HP:0000508HP:0000508Ptosis0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM146316618611994
HP:0000508HP:0000508Ptosis0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000508HP:0000508Ptosis0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000508HP:0000508Ptosis0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000508HP:0000508Ptosis0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000508HP:0000508Ptosis0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000508HP:0000508Ptosis0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000508HP:0000508Ptosis0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000508HP:0000508Ptosis0MT-TF CL E G H4558550ORPHA17481590070
HP:0000508HP:0000508Ptosis0MT-TH CL E G H4564550ORPHA17487590040
HP:0000508HP:0000508Ptosis0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000508HP:0000508Ptosis0MT-TL1 CL E G H4567663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17490590050
HP:0000508HP:0000508Ptosis0MT-TL2 CL E G H4568663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17491590055
HP:0000508HP:0000508Ptosis0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000508HP:0000508Ptosis0MT-TN CL E G H4570663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17493590010
HP:0000508HP:0000508Ptosis0MT-TQ CL E G H4572550ORPHA17495590030
HP:0000508HP:0000508Ptosis0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000508HP:0000508Ptosis0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000508HP:0000508Ptosis0MT-TS1 CL E G H4574663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17497590080
HP:0000508HP:0000508Ptosis0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000508HP:0000508Ptosis0MT-TW CL E G H4578550ORPHA17501590095
HP:0000508HP:0000508Ptosis0MTFMT CL E G H123263255241ORPHA11712429666611766
HP:0000508HP:0000508Ptosis0MTM1 CL E G H4534596Albright like syndromeORPHA13276067448300415
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H64419169189ORPHA137426190611089
HP:0000508HP:0000508Ptosis0MUSK CL E G H459398913ORPHA1223807525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM1223807525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1223807525601296
HP:0000508HP:0000508Ptosis0MYF5 CL E G H4617618155OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES618155OMIM12277565159990
HP:0000508HP:0000508Ptosis0MYF6 CL E G H4618169189ORPHA12747566159991
HP:0000508HP:0000508Ptosis0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM1454317573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA1454317573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1454317573160720
HP:0000508HP:0000508Ptosis0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100229197577160760
HP:0000508HP:0000508Ptosis0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM132737578160741
HP:0000508HP:0000508Ptosis0MYMK CL E G H3898271358ORPHA177633778615345
HP:0000508HP:0000508Ptosis0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM177633778615345
HP:0000508HP:0000508Ptosis0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1631918150607295
HP:0000508HP:0000508Ptosis0MYO9A CL E G H464998914ORPHA161647608604875
HP:0000508HP:0000508Ptosis0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM161647608604875
HP:0000508HP:0000508Ptosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11032718704300013
HP:0000508HP:0000508Ptosis0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA16551819082611549
HP:0000508HP:0000508Ptosis0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM11415826274612803
HP:0000508HP:0000508Ptosis0NDUFA10 CL E G H4705255241ORPHA163357684603835
HP:0000508HP:0000508Ptosis0NDUFA12 CL E G H55967255241ORPHA145223987614530
HP:0000508HP:0000508Ptosis0NDUFA13 CL E G H51079255241ORPHA131817194609435
HP:0000508HP:0000508Ptosis0NDUFA2 CL E G H4695255241ORPHA14717685602137
HP:0000508HP:0000508Ptosis0NDUFA4 CL E G H4697255241ORPHA12607687603833
HP:0000508HP:0000508Ptosis0NDUFA9 CL E G H4704255241ORPHA131497693603834
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H91942255241ORPHA1810028086609653
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H79133255241ORPHA11221815899612360
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM11221815899612360
HP:0000508HP:0000508Ptosis0NDUFAF6 CL E G H137682255241ORPHA11016228625612392
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H4719255241ORPHA1282567707157655
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1282567707157655
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H4720255241ORPHA1241357708602985
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H4722255241ORPHA13757710603846
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H4724255241ORPHA117977711602694
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H374291255241ORPHA181287714601825
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H4728255241ORPHA113797715602141
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H4723255241ORPHA1361727716161015
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361727716161015
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H4729255241ORPHA181607717600532
HP:0000508HP:0000508Ptosis0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1417112768606026
HP:0000508HP:0000508Ptosis0NF1 CL E G H4763638ORPHA1301179527765613113
HP:0000508HP:0000508Ptosis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143797628862608667
HP:0000508HP:0000508Ptosis0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143797628862608667
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48542789ORPHA13798367883600276
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13798367883600276
HP:0000508HP:0000508Ptosis0NRAS CL E G H4893648ORPHA1142067989164790
HP:0000508HP:0000508Ptosis0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11423912766602952
HP:0000508HP:0000508Ptosis0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11423912766602952
HP:0000508HP:0000508Ptosis0NSUN2 CL E G H54888235ORPHA1738225994610916
HP:0000508HP:0000508Ptosis0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13945638140605290
HP:0000508HP:0000508Ptosis0PABPN1 CL E G H8106270ORPHA123518565602279
HP:0000508HP:0000508Ptosis0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM1219930032607492
HP:0000508HP:0000508Ptosis0PAX6 CL E G H5080893ORPHA15715708620607108
HP:0000508HP:0000508Ptosis0PDGFRB CL E G H5159616592Kosaki overgrowth syndrome616592C4225270OMIM1242648804173410
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H5160255241ORPHA11935138806300502
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000508HP:0000508Ptosis0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133996107600733
HP:0000508HP:0000508Ptosis0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311838840613230
HP:0000508HP:0000508Ptosis0PET100 CL E G H100131801255241ORPHA124240038614770
HP:0000508HP:0000508Ptosis0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM124240038614770
HP:0000508HP:0000508Ptosis0PEX1 CL E G H518944MYBPC1-related conditionORPHA11407828850602136
HP:0000508HP:0000508Ptosis0PEX10 CL E G H519244MYBPC1-related conditionORPHA1324758851602859
HP:0000508HP:0000508Ptosis0PEX11B CL E G H879944MYBPC1-related conditionORPHA182818853603867
HP:0000508HP:0000508Ptosis0PEX12 CL E G H519344MYBPC1-related conditionORPHA1372408854601758
HP:0000508HP:0000508Ptosis0PEX13 CL E G H519444MYBPC1-related conditionORPHA1102328855601789
HP:0000508HP:0000508Ptosis0PEX14 CL E G H519544MYBPC1-related conditionORPHA152348856601791
HP:0000508HP:0000508Ptosis0PEX16 CL E G H940944MYBPC1-related conditionORPHA1152038857603360
HP:0000508HP:0000508Ptosis0PEX19 CL E G H582444MYBPC1-related conditionORPHA141799713600279
HP:0000508HP:0000508Ptosis0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182519717170993
HP:0000508HP:0000508Ptosis0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12731322965608666
HP:0000508HP:0000508Ptosis0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101558858603164
HP:0000508HP:0000508Ptosis0PEX5 CL E G H583044MYBPC1-related conditionORPHA1144039719600414
HP:0000508HP:0000508Ptosis0PEX6 CL E G H519044MYBPC1-related conditionORPHA11096398859601498
HP:0000508HP:0000508Ptosis0PEX7 CL E G H5191773ORPHA1533108860601757
HP:0000508HP:0000508Ptosis0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1533108860601757
HP:0000508HP:0000508Ptosis0PHF6 CL E G H84295127ORPHA12925818145300414
HP:0000508HP:0000508Ptosis0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12925818145300414
HP:0000508HP:0000508Ptosis0PHYH CL E G H5264773ORPHA1372018940602026
HP:0000508HP:0000508Ptosis0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1372018940602026
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H638952461ORPHA13263426270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13263426270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM13263426270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13263426270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000508HP:0000508Ptosis0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA1111098966605947
HP:0000508HP:0000508Ptosis0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191518980603157
HP:0000508HP:0000508Ptosis0PITX3 CL E G H530988632ORPHA115379006602669
HP:0000508HP:0000508Ptosis0PLEC CL E G H5339257ORPHA110433369069601282
HP:0000508HP:0000508Ptosis0PLXND1 CL E G H23129570ORPHA181129107604282
HP:0000508HP:0000508Ptosis0POLG CL E G H5428254892ORPHA130014389179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H542870595ORPHA130014389179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130014389179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130014389179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM130014389179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130014389179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM130014389179174763
HP:0000508HP:0000508Ptosis0POLG2 CL E G H11232254892ORPHA1141229180604983
HP:0000508HP:0000508Ptosis0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM1141229180604983
HP:0000508HP:0000508Ptosis0PREPL CL E G H9581163690ORPHA11839430228609557
HP:0000508HP:0000508Ptosis0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11839430228609557
HP:0000508HP:0000508Ptosis0PSMD12 CL E G H5718529962ORPHA110439557604450
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781648ORPHA11435549644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781500ORPHA11435549644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11435549644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11435549644176876
HP:0000508HP:0000508Ptosis0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1126714957607204
HP:0000508HP:0000508Ptosis0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM193324713617387
HP:0000508HP:0000508Ptosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16726517063602536
HP:0000508HP:0000508Ptosis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1132309811606462
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894648ORPHA1546209829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894500ORPHA1546209829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1546209829164760
HP:0000508HP:0000508Ptosis0RAP1A CL E G H59062322ORPHA12369855179520
HP:0000508HP:0000508Ptosis0RAP1B CL E G H59082322ORPHA11339857179530
HP:0000508HP:0000508Ptosis0RAPSN CL E G H591398913ORPHA1603189863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM1603189863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1603189863601592
HP:0000508HP:0000508Ptosis0RASA2 CL E G H5922648ORPHA131269872601589
HP:0000508HP:0000508Ptosis0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111316369884614041
HP:0000508HP:0000508Ptosis0REV3L CL E G H5980570ORPHA191299968602776
HP:0000508HP:0000508Ptosis0RIT1 CL E G H6016648ORPHA12613510023609591
HP:0000508HP:0000508Ptosis0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12613510023609591
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM148518466604123
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15177929168610937
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM15177929168610937
HP:0000508HP:0000508Ptosis0RRAS CL E G H6237648ORPHA1211010447165090
HP:0000508HP:0000508Ptosis0RREB1 CL E G H6239567ORPHA11217210449602209
HP:0000508HP:0000508Ptosis0RRM2B CL E G H50484254892ORPHA14325317296604712
HP:0000508HP:0000508Ptosis0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14325317296604712
HP:0000508HP:0000508Ptosis0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM145629420616585
HP:0000508HP:0000508Ptosis0RYR1 CL E G H6261169189ORPHA1688403410483180901
HP:0000508HP:0000508Ptosis0RYR1 CL E G H6261424107ORPHA1688403410483180901
HP:0000508HP:0000508Ptosis0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688403410483180901
HP:0000508HP:0000508Ptosis0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688403410483180901
HP:0000508HP:0000508Ptosis0SC5D CL E G H630946059ORPHA1618810547602286
HP:0000508HP:0000508Ptosis0SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0000508HP:0000508Ptosis0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM1129105610591603967
HP:0000508HP:0000508Ptosis0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1514110603603644
HP:0000508HP:0000508Ptosis0SCO2 CL E G H9997521411ORPHA13736210604604272
HP:0000508HP:0000508Ptosis0SDHA CL E G H6389255241ORPHA191153810680600857
HP:0000508HP:0000508Ptosis0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191153810680600857
HP:0000508HP:0000508Ptosis0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191153810680600857
HP:0000508HP:0000508Ptosis0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164633867612848
HP:0000508HP:0000508Ptosis0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117443810683602690
HP:0000508HP:0000508Ptosis0SEC24C CL E G H9632567ORPHA12510705607185
HP:0000508HP:0000508Ptosis0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16345015999606210
HP:0000508HP:0000508Ptosis0SEMA3E CL E G H9723138ORPHA1432710727608166
HP:0000508HP:0000508Ptosis0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1432710727608166
HP:0000508HP:0000508Ptosis0SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM12927323604061
HP:0000508HP:0000508Ptosis0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14729515573611060
HP:0000508HP:0000508Ptosis0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13837925566615743
HP:0000508HP:0000508Ptosis0SF3B4 CL E G H10262245ORPHA1387810771605593
HP:0000508HP:0000508Ptosis0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1185410817603729
HP:0000508HP:0000508Ptosis0SHANK3 CL E G H8535848652ORPHA119456814294606230
HP:0000508HP:0000508Ptosis0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119456814294606230
HP:0000508HP:0000508Ptosis0SIX2 CL E G H10736488437ORPHA192310888604994
HP:0000508HP:0000508Ptosis0SKI CL E G H64972462ORPHA12460310896164780
HP:0000508HP:0000508Ptosis0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12062310914604878
HP:0000508HP:0000508Ptosis0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15528410933604322
HP:0000508HP:0000508Ptosis0SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000508HP:0000508Ptosis0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM187810935193001
HP:0000508HP:0000508Ptosis0SLC18A3 CL E G H657298914ORPHA169810936600336
HP:0000508HP:0000508Ptosis0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM169810936600336
HP:0000508HP:0000508Ptosis0SLC19A3 CL E G H80704255241ORPHA13839316266606152
HP:0000508HP:0000508Ptosis0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13839316266606152
HP:0000508HP:0000508Ptosis0SLC25A1 CL E G H657698914ORPHA12446310979190315
HP:0000508HP:0000508Ptosis0SLC25A4 CL E G H291254892ORPHA11724710990103220
HP:0000508HP:0000508Ptosis0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM11724710990103220
HP:0000508HP:0000508Ptosis0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM12221329604604
HP:0000508HP:0000508Ptosis0SLC3A1 CL E G H6519163690ORPHA124126111025104614
HP:0000508HP:0000508Ptosis0SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000508HP:0000508Ptosis0SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000508HP:0000508Ptosis0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM14431316187613350
HP:0000508HP:0000508Ptosis0SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM14431316187613350
HP:0000508HP:0000508Ptosis0SLC5A7 CL E G H6048298914ORPHA12025814025608761
HP:0000508HP:0000508Ptosis0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12025814025608761
HP:0000508HP:0000508Ptosis0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113970011055300036
HP:0000508HP:0000508Ptosis0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM139111056601019
HP:0000508HP:0000508Ptosis0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA1769510955601460
HP:0000508HP:0000508Ptosis0SMAD4 CL E G H40892588ORPHA114714006770600993
HP:0000508HP:0000508Ptosis0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11341311109603111
HP:0000508HP:0000508Ptosis0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110061111111300040
HP:0000508HP:0000508Ptosis0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110061111111300040
HP:0000508HP:0000508Ptosis0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1283002468606062
HP:0000508HP:0000508Ptosis0SNAP25 CL E G H661698914ORPHA1712311132600322
HP:0000508HP:0000508Ptosis0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM1712311132600322
HP:0000508HP:0000508Ptosis0SOS1 CL E G H6654648ORPHA17582011187182530
HP:0000508HP:0000508Ptosis0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17582011187182530
HP:0000508HP:0000508Ptosis0SOS2 CL E G H6655648ORPHA1648411188601247
HP:0000508HP:0000508Ptosis0SOS2 CL E G H6655616559Noonan syndrome 9616559C4225282OMIM1648411188601247
HP:0000508HP:0000508Ptosis0SOST CL E G H509643152Kuster syndromeORPHA1177013771605740
HP:0000508HP:0000508Ptosis0SPECC1L CL E G H233841519ORPHA1818029022614140
HP:0000508HP:0000508Ptosis0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM1818029022614140
HP:0000508HP:0000508Ptosis0SPR CL E G H669770594ORPHA12512411257182125
HP:0000508HP:0000508Ptosis0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM17242520249609291
HP:0000508HP:0000508Ptosis0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM1412928423615521
HP:0000508HP:0000508Ptosis0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1207616950606247
HP:0000508HP:0000508Ptosis0SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0000508HP:0000508Ptosis0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12923711448603921
HP:0000508HP:0000508Ptosis0SURF1 CL E G H6834255241ORPHA112823811474185620
HP:0000508HP:0000508Ptosis0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112823811474185620
HP:0000508HP:0000508Ptosis0SYT2 CL E G H12783398914ORPHA137511510600104
HP:0000508HP:0000508Ptosis0SZT2 CL E G H23334615476Early infantile epileptic encephalopathy 18615476C3809624OMIM125160929040615463
HP:0000508HP:0000508Ptosis0TAB2 CL E G H23118228410ORPHA1339517075605101
HP:0000508HP:0000508Ptosis0TACO1 CL E G H51204255241ORPHA137024316612958
HP:0000508HP:0000508Ptosis0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM137024316612958
HP:0000508HP:0000508Ptosis0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1713516133611663
HP:0000508HP:0000508Ptosis0TBX1 CL E G H6899567ORPHA18270911592602054
HP:0000508HP:0000508Ptosis0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM133335511654606847
HP:0000508HP:0000508Ptosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM14412311742107580
HP:0000508HP:0000508Ptosis0TFAP2B CL E G H702146627ORPHA1157011743601601
HP:0000508HP:0000508Ptosis0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM1157011743601601
HP:0000508HP:0000508Ptosis0TGIF1 CL E G H7050142946Holoprosencephaly 4142946C1840528OMIM12819011776602630
HP:0000508HP:0000508Ptosis0TH CL E G H7054101150ORPHA17754011782191290
HP:0000508HP:0000508Ptosis0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17754011782191290
HP:0000508HP:0000508Ptosis0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM16022811831188250
HP:0000508HP:0000508Ptosis0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1398911842608439
HP:0000508HP:0000508Ptosis0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM1310028128616183
HP:0000508HP:0000508Ptosis0TMEM138 CL E G H515242318ORPHA198526944614459
HP:0000508HP:0000508Ptosis0TMEM216 CL E G H512592318ORPHA1815125018613277
HP:0000508HP:0000508Ptosis0TMEM231 CL E G H795832318ORPHA11920237234614949
HP:0000508HP:0000508Ptosis0TMEM237 CL E G H650622318ORPHA11129714432614423
HP:0000508HP:0000508Ptosis0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11129714432614423
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117439328396609884
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM117439328396609884
HP:0000508HP:0000508Ptosis0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM1714311992601243
HP:0000508HP:0000508Ptosis0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112836915979603273
HP:0000508HP:0000508Ptosis0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14022812011190990
HP:0000508HP:0000508Ptosis0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12825612012191030
HP:0000508HP:0000508Ptosis0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM157420456606692
HP:0000508HP:0000508Ptosis0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM13461765312403188840
HP:0000508HP:0000508Ptosis0TUBB3 CL E G H10381600638Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement600638C2748801OMIM12618820772602661
HP:0000508HP:0000508Ptosis0TWIST1 CL E G H7291794ORPHA120913712428601622
HP:0000508HP:0000508Ptosis0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120913712428601622
HP:0000508HP:0000508Ptosis0TWNK CL E G H5665270595ORPHA1832151160606075
HP:0000508HP:0000508Ptosis0TWNK CL E G H56652254892ORPHA1832151160606075
HP:0000508HP:0000508Ptosis0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM1832151160606075
HP:0000508HP:0000508Ptosis0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM1832151160606075
HP:0000508HP:0000508Ptosis0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM1955423148131222
HP:0000508HP:0000508Ptosis0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1955423148131222
HP:0000508HP:0000508Ptosis0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM1543912469314370
HP:0000508HP:0000508Ptosis0UFD1 CL E G H7353567ORPHA1439912520601754
HP:0000508HP:0000508Ptosis0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12625226582612636
HP:0000508HP:0000508Ptosis0VAMP1 CL E G H684398914ORPHA168212642185880
HP:0000508HP:0000508Ptosis0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM168212642185880
HP:0000508HP:0000508Ptosis0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM11212525928616144
HP:0000508HP:0000508Ptosis0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139385712762606201
HP:0000508HP:0000508Ptosis0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000508HP:0000508Ptosis0WT1 CL E G H7490893ORPHA118486912796607102
HP:0000508HP:0000508Ptosis0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11323524249610957
HP:0000508HP:0000508Ptosis0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12512613503606025
HP:0000508HP:0000508Ptosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11721324931300897
HP:0000508HP:0000508Ptosis0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129876214881605802
HP:0000508HP:0000508Ptosis0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM11513716966608668
HP:0000508HP:0000508Ptosis0ZNF423 CL E G H230902318ORPHA1941916762604557
HP:0000508HP:0000508Ptosis1A2ML1 CL E G H144568648ORPHA12173523336610627
HP:0000508HP:0000508Ptosis1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1661110859600509
HP:0000508HP:0000508Ptosis1ABHD5 CL E G H5109998907ORPHA13917221396604780
HP:0000508HP:0000508Ptosis1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217318129102610
HP:0000508HP:0000508Ptosis1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165306132102630
HP:0000508HP:0000508Ptosis1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165306132102630
HP:0000508HP:0000508Ptosis1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148335144102560
HP:0000508HP:0000508Ptosis1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16823715766611386
HP:0000508HP:0000508Ptosis1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000508HP:0000508Ptosis1AFG3L2 CL E G H10939313772ORPHA140339315604581
HP:0000508HP:0000508Ptosis1AFG3L2 CL E G H10939101109ORPHA140339315604581
HP:0000508HP:0000508Ptosis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0000508HP:0000508Ptosis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000508HP:0000508Ptosis1AGRN CL E G H37579098914ORPHA1181303329103320
HP:0000508HP:0000508Ptosis1AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000508HP:0000508Ptosis1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM1181303329103320
HP:0000508HP:0000508Ptosis1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0000508HP:0000508Ptosis1AK9 CL E G H22126498913ORPHA134433814615358
HP:0000508HP:0000508Ptosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112379391164730
HP:0000508HP:0000508Ptosis1ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18349414103850
HP:0000508HP:0000508Ptosis1ALX1 CL E G H8092306542ORPHA15311494601527
HP:0000508HP:0000508Ptosis1ALX3 CL E G H257391474ORPHA1842449606014
HP:0000508HP:0000508Ptosis1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1842449606014
HP:0000508HP:0000508Ptosis1ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM1217529101616062
HP:0000508HP:0000508Ptosis1ANO10 CL E G H55129284289ORPHA11920925519613726
HP:0000508HP:0000508Ptosis1APOPT1 CL E G H84334436271ORPHA112120492616003
HP:0000508HP:0000508Ptosis1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112120492616003
HP:0000508HP:0000508Ptosis1ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000508HP:0000508Ptosis1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118881518040614556
HP:0000508HP:0000508Ptosis1ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1363694604695
HP:0000508HP:0000508Ptosis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000508HP:0000508Ptosis1ARVCF CL E G H421567ORPHA12541728602269
HP:0000508HP:0000508Ptosis1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM1610623805612991
HP:0000508HP:0000508Ptosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11701074886300032
HP:0000508HP:0000508Ptosis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13437106607047
HP:0000508HP:0000508Ptosis1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16239814262607270
HP:0000508HP:0000508Ptosis1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11522420207610308
HP:0000508HP:0000508Ptosis1B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM145028636611951
HP:0000508HP:0000508Ptosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15548220893300485
HP:0000508HP:0000508Ptosis1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15548220893300485
HP:0000508HP:0000508Ptosis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1372461020603647
HP:0000508HP:0000508Ptosis1BDNF CL E G H627893ORPHA135561033113505
HP:0000508HP:0000508Ptosis1BIN1 CL E G H274169189ORPHA1174261052601248
HP:0000508HP:0000508Ptosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1174261052601248
HP:0000508HP:0000508Ptosis1BPTF CL E G H2186529962ORPHA1141063581601819
HP:0000508HP:0000508Ptosis1BRAF CL E G H673648ORPHA1685991097164757
HP:0000508HP:0000508Ptosis1BRAF CL E G H673500ORPHA1685991097164757
HP:0000508HP:0000508Ptosis1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1685991097164757
HP:0000508HP:0000508Ptosis1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000508HP:0000508Ptosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1685991097164757
HP:0000508HP:0000508Ptosis1BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11814214255602410
HP:0000508HP:0000508Ptosis1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0000508HP:0000508Ptosis1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM17431243601269
HP:0000508HP:0000508Ptosis1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436901541165360
HP:0000508HP:0000508Ptosis1CC2D2A CL E G H575452318ORPHA19686529253612013
HP:0000508HP:0000508Ptosis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19686529253612013
HP:0000508HP:0000508Ptosis1CCDC47 CL E G H57003618268618268618268OMIM1523248560
HP:0000508HP:0000508Ptosis1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221711733603309
HP:0000508HP:0000508Ptosis1CEP290 CL E G H801842318ORPHA1310151729021610142
HP:0000508HP:0000508Ptosis1CHAT CL E G H110398914ORPHA1775001912118490
HP:0000508HP:0000508Ptosis1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000508HP:0000508Ptosis1CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231701919603277
HP:0000508HP:0000508Ptosis1CHD7 CL E G H55636138ORPHA1884167220626608892
HP:0000508HP:0000508Ptosis1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884167220626608892
HP:0000508HP:0000508Ptosis1CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000508HP:0000508Ptosis1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000508HP:0000508Ptosis1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000508HP:0000508Ptosis1CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000508HP:0000508Ptosis1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112771961100710
HP:0000508HP:0000508Ptosis1CHRND CL E G H114498913ORPHA1263221965100720
HP:0000508HP:0000508Ptosis1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM1263221965100720
HP:0000508HP:0000508Ptosis1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1263221965100720
HP:0000508HP:0000508Ptosis1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1263221965100720
HP:0000508HP:0000508Ptosis1CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000508HP:0000508Ptosis1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000508HP:0000508Ptosis1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11385911966100725
HP:0000508HP:0000508Ptosis1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000508HP:0000508Ptosis1CHRNG CL E G H11462990ORPHA1352021967100730
HP:0000508HP:0000508Ptosis1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1352021967100730
HP:0000508HP:0000508Ptosis1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM1211478011602346
HP:0000508HP:0000508Ptosis1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM172725716615623
HP:0000508HP:0000508Ptosis1COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000508HP:0000508Ptosis1COL13A1 CL E G H130598914ORPHA131752190120350
HP:0000508HP:0000508Ptosis1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM131752190120350
HP:0000508HP:0000508Ptosis1COL25A1 CL E G H84570616219Fibrosis of extraocular muscles, congenital, 5616219C4015552OMIM144218603610004
HP:0000508HP:0000508Ptosis1COLEC10 CL E G H10584293843ORPHA14542220607620
HP:0000508HP:0000508Ptosis1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14542220607620
HP:0000508HP:0000508Ptosis1COLEC11 CL E G H78989293843ORPHA1136217213612502
HP:0000508HP:0000508Ptosis1COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1136217213612502
HP:0000508HP:0000508Ptosis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000508HP:0000508Ptosis1COMT CL E G H1312567ORPHA1155772228116790
HP:0000508HP:0000508Ptosis1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132452260602125
HP:0000508HP:0000508Ptosis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132452260602125
HP:0000508HP:0000508Ptosis1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111928216614478
HP:0000508HP:0000508Ptosis1COX15 CL E G H1355255241ORPHA152152263603646
HP:0000508HP:0000508Ptosis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM152152263603646
HP:0000508HP:0000508Ptosis1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1113726970614698
HP:0000508HP:0000508Ptosis1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13422280124089
HP:0000508HP:0000508Ptosis1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11162294123870
HP:0000508HP:0000508Ptosis1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131512309605032
HP:0000508HP:0000508Ptosis1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000508HP:0000508Ptosis1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201682457115440
HP:0000508HP:0000508Ptosis1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12745726193611654
HP:0000508HP:0000508Ptosis1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111702494602618
HP:0000508HP:0000508Ptosis1DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM1262682689609312
HP:0000508HP:0000508Ptosis1DCHS1 CL E G H8642601390601390601390OMIM12429813681603057
HP:0000508HP:0000508Ptosis1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1592092719107930
HP:0000508HP:0000508Ptosis1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641342858601465
HP:0000508HP:0000508Ptosis1DHCR7 CL E G H1717818ORPHA12185052860602858
HP:0000508HP:0000508Ptosis1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12185052860602858
HP:0000508HP:0000508Ptosis1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151622896608770
HP:0000508HP:0000508Ptosis1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM182062939601810
HP:0000508HP:0000508Ptosis1DNM2 CL E G H1785169189ORPHA1526702974602378
HP:0000508HP:0000508Ptosis1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1526702974602378
HP:0000508HP:0000508Ptosis1DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000508HP:0000508Ptosis1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM17564126594610285
HP:0000508HP:0000508Ptosis1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17564126594610285
HP:0000508HP:0000508Ptosis1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM1421972995191350
HP:0000508HP:0000508Ptosis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13020429419612799
HP:0000508HP:0000508Ptosis1EBP CL E G H1068235173ORPHA1912603133300205
HP:0000508HP:0000508Ptosis1ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM1331463147605896
HP:0000508HP:0000508Ptosis1ECHS1 CL E G H1892255241ORPHA1332363151602292
HP:0000508HP:0000508Ptosis1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19783188605984
HP:0000508HP:0000508Ptosis1EFEMP2 CL E G H3000890349ORPHA1172453219604633
HP:0000508HP:0000508Ptosis1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000508HP:0000508Ptosis1ERF CL E G H2077207EchinococcosisORPHA1191023444611888
HP:0000508HP:0000508Ptosis1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1326729160612322
HP:0000508HP:0000508Ptosis1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13747423109612411
HP:0000508HP:0000508Ptosis1FBLN5 CL E G H1051690349ORPHA1231933602604580
HP:0000508HP:0000508Ptosis1FBN1 CL E G H22002462ORPHA1272149063603134797
HP:0000508HP:0000508Ptosis1FGD1 CL E G H2245915ORPHA1512993663300546
HP:0000508HP:0000508Ptosis1FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512993663300546
HP:0000508HP:0000508Ptosis1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12654953688136350
HP:0000508HP:0000508Ptosis1FGFR2 CL E G H22631555ORPHA11594463689176943
HP:0000508HP:0000508Ptosis1FGFR2 CL E G H2263794ORPHA11594463689176943
HP:0000508HP:0000508Ptosis1FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA11594463689176943
HP:0000508HP:0000508Ptosis1FGFR2 CL E G H2263207EchinococcosisORPHA11594463689176943
HP:0000508HP:0000508Ptosis1FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11594463689176943
HP:0000508HP:0000508Ptosis1FGFR3 CL E G H2261794ORPHA1775083690134934
HP:0000508HP:0000508Ptosis1FGFR3 CL E G H226153271ORPHA1775083690134934
HP:0000508HP:0000508Ptosis1FGFR3 CL E G H226193262ORPHA1775083690134934
HP:0000508HP:0000508Ptosis1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1775083690134934
HP:0000508HP:0000508Ptosis1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM172143693605830
HP:0000508HP:0000508Ptosis1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171693749193067
HP:0000508HP:0000508Ptosis1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127118133754300017
HP:0000508HP:0000508Ptosis1FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000508HP:0000508Ptosis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM1971093801602402
HP:0000508HP:0000508Ptosis1FOXE3 CL E G H230188632ORPHA1311463808601094
HP:0000508HP:0000508Ptosis1FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241721092605597
HP:0000508HP:0000508Ptosis1FOXRED1 CL E G H55572255241ORPHA1820926927613622
HP:0000508HP:0000508Ptosis1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18485514195138079
HP:0000508HP:0000508Ptosis1GFER CL E G H2671330054ORPHA161074236600924
HP:0000508HP:0000508Ptosis1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000508HP:0000508Ptosis1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000508HP:0000508Ptosis1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12446464319165240
HP:0000508HP:0000508Ptosis1GP1BB CL E G H2812567ORPHA1534254440138720
HP:0000508HP:0000508Ptosis1GPRASP2 CL E G H114928301018DEAFNESS, X-LINKED 7301018OMIM1217625169300969
HP:0000508HP:0000508Ptosis1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1201774593604473
HP:0000508HP:0000508Ptosis1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15626013315300269
HP:0000508HP:0000508Ptosis1HIRA CL E G H7290567ORPHA154344916600237
HP:0000508HP:0000508Ptosis1HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111895004300193
HP:0000508HP:0000508Ptosis1HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM1151045044600712
HP:0000508HP:0000508Ptosis1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16315111142968
HP:0000508HP:0000508Ptosis1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA1181625154601688
HP:0000508HP:0000508Ptosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181625154601688
HP:0000508HP:0000508Ptosis1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1344065173190020
HP:0000508HP:0000508Ptosis1HSPG2 CL E G H3339800ORPHA16712925273142461
HP:0000508HP:0000508Ptosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0000508HP:0000508Ptosis1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16406395389300823
HP:0000508HP:0000508Ptosis1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM1410718550609382
HP:0000508HP:0000508Ptosis1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131695464147440
HP:0000508HP:0000508Ptosis1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000508HP:0000508Ptosis1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831286081176730
HP:0000508HP:0000508Ptosis1JMJD1C CL E G H221037567ORPHA12980712313604503
HP:0000508HP:0000508Ptosis1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM172103924565612452
HP:0000508HP:0000508Ptosis1KAT6A CL E G H7994457193ORPHA12936713013601408
HP:0000508HP:0000508Ptosis1KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12936713013601408
HP:0000508HP:0000508Ptosis1KAT6B CL E G H23522648ORPHA17635917582605880
HP:0000508HP:0000508Ptosis1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872986257600937
HP:0000508HP:0000508Ptosis1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1338118039605393
HP:0000508HP:0000508Ptosis1KDM6A CL E G H74032322ORPHA18146512637300128
HP:0000508HP:0000508Ptosis1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18146512637300128
HP:0000508HP:0000508Ptosis1KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM1229068616650
HP:0000508HP:0000508Ptosis1KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0000508HP:0000508Ptosis1KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000508HP:0000508Ptosis1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1693586323602821
HP:0000508HP:0000508Ptosis1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11276087132159555
HP:0000508HP:0000508Ptosis1KMT2D CL E G H80852322ORPHA171217317133602113
HP:0000508HP:0000508Ptosis1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171217317133602113
HP:0000508HP:0000508Ptosis1KRAS CL E G H3845648ORPHA1453296407190070
HP:0000508HP:0000508Ptosis1KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1453296407190070
HP:0000508HP:0000508Ptosis1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000508HP:0000508Ptosis1KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000508HP:0000508Ptosis1KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000508HP:0000508Ptosis1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141886556604407
HP:0000508HP:0000508Ptosis1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141886556604407
HP:0000508HP:0000508Ptosis1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM197318712608303
HP:0000508HP:0000508Ptosis1LIG4 CL E G H3981235ORPHA1403816601601837
HP:0000508HP:0000508Ptosis1LIPT1 CL E G H51601255241ORPHA196929569610284
HP:0000508HP:0000508Ptosis1LMNA CL E G H40002229ORPHA157413316636150330
HP:0000508HP:0000508Ptosis1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953686654602575
HP:0000508HP:0000508Ptosis1LONP1 CL E G H93611458ORPHA1192089479605490
HP:0000508HP:0000508Ptosis1LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000508HP:0000508Ptosis1LRP4 CL E G H40383152Kuster syndromeORPHA1345266696604270
HP:0000508HP:0000508Ptosis1LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1345266696604270
HP:0000508HP:0000508Ptosis1LZTR1 CL E G H8216648ORPHA1869006742600574
HP:0000508HP:0000508Ptosis1LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM1869006742600574
HP:0000508HP:0000508Ptosis1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1222416776